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Debra L Schutte

Publications and source records attributed to Debra L Schutte.

12 recordsLinked to original sources
PubMed2007

"No one else sees the difference: "family members' perceptions of changes in persons with preclinical Huntington disease.

Manifestations of Huntington disease (HD) prior to clinical diagnosis are not well understood. This study documents adult family members' perceptions of changes and their attempts to manage these changes in persons who had received a positive predictive molecular HD test prior to clinical diagnosis. Data were obtained from 19 adult family members in six focus groups in the US and Canada and one individual interview in the US. Changes reported by family members included problems in cognition and behavior, which are consistent with prior reports. In addition, family members observed changes in motor functioning, the ability to complete usual activities at work or at home, and interpersonal relationships with family and friends. Family members attempted to manage these changes by taking on new responsibilities and preparing for future caregiving. Lack of information about preclinical HD, difficulty in understanding changes that may represent early stages of HD, and efforts to maintain secrecy of the preclinical HD situation contribute to compromising the abilities of family members to respond to changes in the person with preclinical HD. Findings provide insights into alterations in cognition, behavior, and functioning observed by the family members prior to clinical diagnosis. Findings further support the need for a more comprehensive assessment and management of early HD symptoms as well as support for family members.

Adult↗
PubMed2006

Predictors of topical anesthetic effectiveness in children.

UNLABELLED: Some children report significant pain with peripheral intravenous catheter (IV) insertion, despite the appropriate use of topical lidocaine anesthetics. This analysis of data from an existing study identified factors related to variation in topical anesthetic effectiveness used for IV insertion. The children (n = 218) in this investigation were 4 to 10 years old and undergoing a scheduled IV insertion. Inclusion criteria were (1) topical anesthetic was used according to manufacturer's recommendations, (2) DNA material was available, and (3) child completed a self-report measure of pain intensity (Oucher scale). Low pain phenotype was defined as a pain intensity score of 0 to 3, and high pain phenotype was an intensity score of 4 to 10. Potential predictor variables included child age, gender, number of previous painful procedures, state and trait anxiety, temperament characteristics, and alleles in 3 candidate genes in a pain pathway influenced by topical anesthetics (endothelin-1 [EDN1], endothelin receptor A [EDNRA], endothelin receptor B [EDNRB]). All subjects were genotyped for a single-nucleotide polymorphism in each gene. Children in the high pain group (n = 89) were significantly younger (P < .0001), more active (P = .0029), scored higher for trait (P = .0009) and state anxiety (P = .0312), and had the EDNRA TT genotype (high pain group, TT 67.35%; low pain group, TT 39.47%; P = .026). PERSPECTIVE: The identification of factors that influence peripheral pain sensation aids in selecting the most appropriate pharmacologic and nonpharmacologic interventions. Until genotyping is available at a clinically prescriptive level, other predictors (eg, age and activity level) can be used to tailor pain-relieving strategies for children undergoing needle sticks.

Administration, Topical↗
PubMed2006

Alzheimer disease and genetics: anticipating the questions.

Three genes with autosomal dominant mutations have been identified that may lead to Alzheimer symptoms in carriers before they reach age 60. Genetic tests exist for Alzheimer disease, but they are considered useful only for the small number of families with a history of early-onset illness. As researchers continue to uncover evidence of genetic links to Alzheimer disease, nurses can expect to field questions from family members about genetic testing. The article presents a variety of questions nurses may be asked, as well as possible answers.

Activities of Daily Living↗
PubMed2006

Chronic dementing conditions, genomics, and new opportunities for nursing interventions.

PURPOSE: To (a) provide an overview of chronic dementing conditions; (b) discuss the etiologic and clinical characteristics of Alzheimer disease (AD) and Parkinson disease (PD) within the framework of the family systems genetic illness model; and (c) to explore opportunities to enhance outcomes through the integration of genomics information and technologies into nursing practice. DESIGN: An integrated review of the literature, including the organizing construct of the family systems genetic illness model. FINDINGS: AD and PD are both influenced by genetic and environmental factors; in a small percentage of families, gene mutations are the primary etiologic factor. Genetic testing is an option for some families experiencing early-onset, familial disease. Presymptomatic and diagnostic genetic testing have limited clinical utility for the more common late-onset AD and PD. CONCLUSIONS: The current abilities of healthcare professionals to effectively intervene in people with AD and PD are limited by an incomplete understanding of the biologic basis of these diseases. Advances in genomics research and technology are providing the information and tools necessary to understand the molecular basis of these devastating disorders toward the goal of more specific and effective interventions.

Alzheimer Disease↗
PubMed2006

Integrating molecular genetics analyses into clinical research.

The integration of molecular genetics approaches into the study of complex health phenomena is an increasingly important and available strategy for researchers across the health science disciplines. Pain sensation and response to painful stimuli are examples of complex health phenomena that are particularly amenable to molecular genetics approaches. Both human and animal model research suggests that differences in these responses may be related, in part, to variation in the genes that modulate sensation and behavior. The authors are currently managing a large cross-disciplinary research effort to identify child characteristics, including genotypes, that predict the degree of distress displayed by children following a painful medical procedure (i.e., IV insertion). The purpose of this article is to describe the strategies used to integrate molecular genetics methods into this project. The authors discuss the steps needed to complete this process, including (a) establishing a collaboration with genetics researchers and laboratory facilities, (b) developing and implementing a plan to manage biologic samples, and (c) incorporating genetics into the informed consent process.

Child↗
PubMed2004

The evolving role of genomics in shaping care for persons with dementia.

Alzheimer's disease and other chronic dementing conditions remain formidable challenges for individuals, their families, and health care providers. In addition to the challenges inherent in the sheer numbers affected, the complex and relatively unpredictable progression of these disorders complicates the delivery of interventions for health care providers. Identifying genetic and environmental etiologic factors and understanding their relationship to the natural history of dementia brings health care providers closer to more effective pharmacologic treatments and perhaps cure. In the meantime, genomics research brings professional nurses closer to providing more specific, perhaps individualized, anticipatory guidance and to providing nonpharmacologic interventions in a genotype-directed way to patients with chronic dementing conditions. The emergence of a genomics-based health care environment presents an opportunity and a challenge for gerontological nurse clinicians, educators, and researchers--an opportunity to evolve practice toward a higher level of specificity and effectiveness and a challenge to do so in a equitable and sensitive manner that improves health and quality of life for all served.

Aged↗
PubMed2003

A LRPAP1 intronic insertion/deletion polymorphism and phenotypic variability in Alzheimer disease.

Alzheimer disease (AD) is a neurodegenerative disorder, characterized by dementia. AD exhibits variability in age at onset, rate of progression, and specific cognitive, functional, and behavioral features. Genetic variants are potential modulators of phenotypic variability. The purpose of this study was to explore the relationship between a polymorphism in the Low Density Lipoprotein Receptor Related Protein-Associated Protein (LRPAP1) gene (4p16.3) and repeated measures of cognition, function, and behavior in persons with AD, using outcome data collected in two caregiver intervention studies. Thirty-seven subjects diagnosed with probable or possible AD were recruited. All subjects were genotyped for a 37 basepair insertion/deletion polymorphism in intron 5 of the LRPAP1 gene. No differences in allele or genotype frequencies by gender or by age at onset were identified. No statistically significant genotype effects upon cognition or behavior were identified. However, trends were noted in measures of language, with the LRPAP1 insertion-positive subjects exhibiting poorer language scores (average score difference = 28%, p = .158). LRPAP1 insertion-positive subjects also were more functionally impaired than subjects without the LRPAP1 insertion allele (F1,7 = 7.36, p = .030). These results suggest genetic variations at the LRPAP1 locus may modulate AD phenotype beyond risk for disease.

Activities of Daily Living↗